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Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin, Nadja; Hotz, Alrun; Bourrat, Emmanuelle; Küsel, Julia; Oji, Vinzenz; Bouadjar, Bakar; Brognoli, Davide; Hickman, Geoffroy; Heinz, Lisa; Vabres, Pierre; Marrakchi, Slaheddine; Leclerc-Mercier, Stéphanie; Irvine, Alan; Tadini, Gianluca; Hamm, Henning; Has, Cristina; Blume-Peytavi, Ulrike; Mitter, Diana; Reitenbach, Marina; Hausser, Ingrid; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith.
Afiliação
  • Ballin N; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Hotz A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Bourrat E; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, Paris, France.
  • Küsel J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Oji V; Department of Dermatology, University Hospital, Münster, Germany.
  • Bouadjar B; Department of Dermatology, CHU of Bab-El-Oued Algiers, Algeria.
  • Brognoli D; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, Paris, France.
  • Hickman G; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, Paris, France.
  • Heinz L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Vabres P; Competence Centre for Rare Skin Diseases, Dermatology Department, CHU Dijon, Dijon, France.
  • Marrakchi S; Department of Dermatology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia.
  • Leclerc-Mercier S; Department of Pathology and Dermatology and MAGEC Reference Center for Rare Skin Diseases, Hopital Necker-Enfants Malades, Paris, France.
  • Irvine A; Department of Clinical Medicine Trinity College Dublin, Our Lady's Children's Hospital, National Children's Research Centre, Dublin, Ireland.
  • Tadini G; Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Hamm H; Department of Dermatology, Venerology, and Allergology, University Hospital Wuerzburg, Wuerzburg, Germany.
  • Has C; Department of Dermatology and Venerology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Blume-Peytavi U; Department of Dermatology, Venereology, and Allergology, Charité Berlin, Berlin, Germany.
  • Mitter D; MedVZ Leipzig, University Hospital Leipzig, Leipzig, Germany.
  • Reitenbach M; Medical Practice for Paediatrics, Lengerich, Germany.
  • Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
  • Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Alter S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Hum Mutat ; 40(12): 2318-2333, 2019 12.
Article em En | MEDLINE | ID: mdl-31347739
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Superfície Celular / Ictiose / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Superfície Celular / Ictiose / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article